{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["GalNAc-T3","HHS","HFTC"],"biotype":"protein_coding","hgnc_id":"HGNC:4125","gene_name":"polypeptide N-acetylgalactosaminyltransferase 3","omim_gene":["601756"],"alias_name":["polypeptide GalNAc transferase 3"],"gene_symbol":"GALNT3","hgnc_symbol":"GALNT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166604101-166651192","ensembl_id":"ENSG00000115339"}},"GRch38":{"90":{"location":"2:165747591-165794682","ensembl_id":"ENSG00000115339"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"GALNT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15133511"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":552,"hash_id":null,"name":"Familial tumoral calcinosis","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T14:36:02.985916Z","relevant_disorders":["R162"],"stats":{"number_of_genes":4,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":["GalNAc-T3","HHS","HFTC"],"biotype":"protein_coding","hgnc_id":"HGNC:4125","gene_name":"polypeptide N-acetylgalactosaminyltransferase 3","omim_gene":["601756"],"alias_name":["polypeptide GalNAc transferase 3"],"gene_symbol":"GALNT3","hgnc_symbol":"GALNT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166604101-166651192","ensembl_id":"ENSG00000115339"}},"GRch38":{"90":{"location":"2:165747591-165794682","ensembl_id":"ENSG00000115339"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"GALNT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Familial tumoural calcinosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":559,"hash_id":null,"name":"Pigmentary skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-09-17T17:51:23.014209Z","relevant_disorders":[],"stats":{"number_of_genes":102,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GalNAc-T3","HHS","HFTC"],"biotype":"protein_coding","hgnc_id":"HGNC:4125","gene_name":"polypeptide N-acetylgalactosaminyltransferase 3","omim_gene":["601756"],"alias_name":["polypeptide GalNAc transferase 3"],"gene_symbol":"GALNT3","hgnc_symbol":"GALNT3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:166604101-166651192","ensembl_id":"ENSG00000115339"}},"GRch38":{"90":{"location":"2:165747591-165794682","ensembl_id":"ENSG00000115339"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"GALNT3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15133511"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Literature","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory"],"phenotypes":["Tumoral calcinosis, hyperphosphatemic, familial 211900","Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":25,"hash_id":"58346b8b8f62036225ca8a7d","name":"Congenital disorders of glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.32","version_created":"2019-10-07T16:15:06.398101Z","relevant_disorders":["Congential disorders of glycosylation"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GalNAc-T3","HHS","HFTC"],"biotype":"protein_coding","hgnc_id":"HGNC:4125","gene_name":"polypeptide N-acetylgalactosaminyltransferase 3","omim_gene":["601756"],"alias_name":["polypeptide GalNAc transferase 3"],"gene_symbol":"GALNT3","hgnc_symbol":"GALNT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166604101-166651192","ensembl_id":"ENSG00000115339"}},"GRch38":{"90":{"location":"2:165747591-165794682","ensembl_id":"ENSG00000115339"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"GALNT3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":565,"hash_id":null,"name":"Rare genetic inflammatory skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.14","version_created":"2019-09-09T15:38:40.627314Z","relevant_disorders":[],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GalNAc-T3","HHS","HFTC"],"biotype":"protein_coding","hgnc_id":"HGNC:4125","gene_name":"polypeptide N-acetylgalactosaminyltransferase 3","omim_gene":["601756"],"alias_name":["polypeptide GalNAc transferase 3"],"gene_symbol":"GALNT3","hgnc_symbol":"GALNT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166604101-166651192","ensembl_id":"ENSG00000115339"}},"GRch38":{"90":{"location":"2:165747591-165794682","ensembl_id":"ENSG00000115339"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"GALNT3","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","London North GLH","NHS GMS"],"phenotypes":["Familial tumoural calcinosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":558,"hash_id":null,"name":"Multiple monogenic benign skin tumours","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-06-20T15:15:13.746402Z","relevant_disorders":[],"stats":{"number_of_genes":43,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GalNAc-T3","HHS","HFTC"],"biotype":"protein_coding","hgnc_id":"HGNC:4125","gene_name":"polypeptide N-acetylgalactosaminyltransferase 3","omim_gene":["601756"],"alias_name":["polypeptide GalNAc transferase 3"],"gene_symbol":"GALNT3","hgnc_symbol":"GALNT3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:166604101-166651192","ensembl_id":"ENSG00000115339"}},"GRch38":{"90":{"location":"2:165747591-165794682","ensembl_id":"ENSG00000115339"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"GALNT3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","UKGTN","Expert list","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen",""],"phenotypes":["Tumoral calcinosis, hyperphosphatemic, familial I 211900","Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GalNAc-T3","HHS","HFTC"],"biotype":"protein_coding","hgnc_id":"HGNC:4125","gene_name":"polypeptide N-acetylgalactosaminyltransferase 3","omim_gene":["601756"],"alias_name":["polypeptide GalNAc transferase 3"],"gene_symbol":"GALNT3","hgnc_symbol":"GALNT3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:166604101-166651192","ensembl_id":"ENSG00000115339"}},"GRch38":{"90":{"location":"2:165747591-165794682","ensembl_id":"ENSG00000115339"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"GALNT3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)","Tumoral calcinosis, hyperphosphatemic, familial 211900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GalNAc-T3","HHS","HFTC"],"biotype":"protein_coding","hgnc_id":"HGNC:4125","gene_name":"polypeptide N-acetylgalactosaminyltransferase 3","omim_gene":["601756"],"alias_name":["polypeptide GalNAc transferase 3"],"gene_symbol":"GALNT3","hgnc_symbol":"GALNT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166604101-166651192","ensembl_id":"ENSG00000115339"}},"GRch38":{"90":{"location":"2:165747591-165794682","ensembl_id":"ENSG00000115339"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"GALNT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15133511"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)","Tumoral calcinosis, hyperphosphatemic, familial 211900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}
